ClinVar Miner

List of variants in gene STXBP1 studied for obsolete Dravet syndrome

Included ClinVar conditions (19):
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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln) rs374269726 0.00004
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile) rs1046891783 0.00001
NM_001032221.6(STXBP1):c.1360-7C>T rs895077278 0.00001
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met) rs762251880 0.00001
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His) rs749244650 0.00001
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NM_001032221.6(STXBP1):c.902+10C>T rs760108945 0.00001
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn) rs746172968 0.00001
NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser) rs1085307916
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_001032221.6(STXBP1):c.1008G>C (p.Gln336His)
NM_001032221.6(STXBP1):c.1018G>T (p.Glu340Ter)
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1029+1G>C rs727504173
NM_001032221.6(STXBP1):c.1029+1G>T rs727504173
NM_001032221.6(STXBP1):c.1030-2A>G
NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs) rs1841611480
NM_001032221.6(STXBP1):c.103C>T (p.Gln35Ter)
NM_001032221.6(STXBP1):c.103_119del (p.Gln35fs)
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro) rs2131501072
NM_001032221.6(STXBP1):c.1045C>G (p.His349Asp)
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg) rs886041337
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr) rs796053365
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)
NM_001032221.6(STXBP1):c.1088A>T (p.Asp363Val)
NM_001032221.6(STXBP1):c.1095_1096del (p.Cys366fs) rs1057518154
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter) rs2131501460
NM_001032221.6(STXBP1):c.1110+2T>G
NM_001032221.6(STXBP1):c.1110+3A>C rs2131501481
NM_001032221.6(STXBP1):c.1111-2A>G rs1554778417
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001032221.6(STXBP1):c.1171G>A (p.Val391Ile)
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu) rs886041246
NM_001032221.6(STXBP1):c.1227_1229del (p.Leu410del) rs2131510168
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg) rs2132444527
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) rs1588339898
NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg) rs2131510237
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) rs1588341629
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg) rs886039435
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter) rs2131513223
NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys) rs1841768122
NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del) rs2132444621
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)
NM_001032221.6(STXBP1):c.1337T>C (p.Leu446Pro)
NM_001032221.6(STXBP1):c.1359+1G>A rs796053370
NM_001032221.6(STXBP1):c.1359+5G>A rs2131513670
NM_001032221.6(STXBP1):c.1359+5G>C
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs) rs1554778657
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs) rs1554778657
NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1428dup (p.Arg477fs)
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg) rs2131522449
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs) rs2132444703
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1462-2A>C
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe) rs1554778810
NM_001032221.6(STXBP1):c.1481_1487del (p.Leu494fs)
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs) rs2131528405
NM_001032221.6(STXBP1):c.1495_1496dup (p.Pro500fs)
NM_001032221.6(STXBP1):c.1533_1543del (p.Thr512fs)
NM_001032221.6(STXBP1):c.1547+2T>G
NM_001032221.6(STXBP1):c.1548-18TC[3] rs148316151
NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter) rs1564357089
NM_001032221.6(STXBP1):c.1557T>G (p.Tyr519Ter)
NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter) rs1842039791
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) rs756998073
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) rs1842044505
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1634T>G (p.Val545Gly)
NM_001032221.6(STXBP1):c.1640T>C (p.Leu547Pro)
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr) rs2131536069
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter) rs942940725
NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)
NM_001032221.6(STXBP1):c.1658C>A (p.Ala553Asp)
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)
NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs) rs2131536257
NM_001032221.6(STXBP1):c.169+1G>A rs587776641
NM_001032221.6(STXBP1):c.16C>T (p.Leu6Phe)
NM_001032221.6(STXBP1):c.170-1G>C rs112002192
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.170T>C (p.Ile57Thr) rs2132460702
NM_001032221.6(STXBP1):c.226C>G (p.Leu76Val)
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.236del (p.Pro79fs)
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) rs1461664423
NM_001032221.6(STXBP1):c.246+1G>C rs1840868164
NM_001032221.6(STXBP1):c.246+2_325+14del
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His) rs1840970680
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del) rs1588306876
NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val) rs1840974440
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro) rs1588306948
NM_001032221.6(STXBP1):c.325+1G>A
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032221.6(STXBP1):c.325+5G>A
NM_001032221.6(STXBP1):c.326-1G>C
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg) rs2131454649
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) rs1841026473
NM_001032221.6(STXBP1):c.38-300C>T rs2132435278
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp) rs1588309392
NM_001032221.6(STXBP1):c.429+2T>G
NM_001032221.6(STXBP1):c.430-1G>A rs796053354
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe) rs1211863124
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
NM_001032221.6(STXBP1):c.478del (p.His160fs)
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser) rs1841136116
NM_001032221.6(STXBP1):c.526A>T (p.Ile176Phe) rs2131462854
NM_001032221.6(STXBP1):c.530C>T (p.Ala177Val)
NM_001032221.6(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_001032221.6(STXBP1):c.550_552del (p.Lys184del)
NM_001032221.6(STXBP1):c.553G>A (p.Glu185Lys)
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.56T>C (p.Ile19Thr)
NM_001032221.6(STXBP1):c.576G>A (p.Arg192=) rs752943575
NM_001032221.6(STXBP1):c.578+1G>A rs796053357
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.579-1G>C
NM_001032221.6(STXBP1):c.596C>T (p.Ala199Val)
NM_001032221.6(STXBP1):c.614_615del (p.Ile205fs)
NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)
NM_001032221.6(STXBP1):c.624del (p.Lys208fs) rs1841237663
NM_001032221.6(STXBP1):c.649C>T (p.Pro217Ser)
NM_001032221.6(STXBP1):c.663+1G>A rs1841240415
NM_001032221.6(STXBP1):c.663+1G>C rs1841240415
NM_001032221.6(STXBP1):c.679C>T (p.Arg227Cys)
NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)
NM_001032221.6(STXBP1):c.692dup (p.Ile232fs) rs1564351388
NM_001032221.6(STXBP1):c.698T>C (p.Leu233Pro) rs1588319482
NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu) rs587784456
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
NM_001032221.6(STXBP1):c.733C>A (p.His245Asn) rs1554777480
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_001032221.6(STXBP1):c.748C>A (p.Gln250Lys)
NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr) rs1841290957
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val) rs2131473052
NM_001032221.6(STXBP1):c.794+1G>A rs1554777496
NM_001032221.6(STXBP1):c.795-1G>A rs1554777708
NM_001032221.6(STXBP1):c.795-2A>C rs2131481227
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_001032221.6(STXBP1):c.830_831delinsC (p.Lys277fs)
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro) rs2131481488
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro) rs2131481623
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001032221.6(STXBP1):c.87+19T>C
NM_001032221.6(STXBP1):c.87+2T>C rs1554775960
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.898del (p.Ser300fs) rs2131481907
NM_001032221.6(STXBP1):c.902+1G>A rs886041978
NM_001032221.6(STXBP1):c.92T>C (p.Leu31Pro)
NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)
NM_001032221.6(STXBP1):c.963+2T>C
NM_001032221.6(STXBP1):c.993del (p.Lys332fs) rs2131497300
NM_003165.6(STXBP1):c.1711C>A (p.His571Asn)
NM_003165.6(STXBP1):c.664-1delG rs2131472407

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